Valproate and spinal muscular atrophy (Review)

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Valproate and spinal muscular atrophy (Review).

Childhood spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by mutations in the survival motor neuron (SMN) gene. The severity of the disease is dictated by the copy number of a second copy of the gene, known as SMN2, with higher copy numbers associated with milder forms of SMA. This is because the level of SMN protein produced by patients dictates the severity of the dise...

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Spinal Muscular Atrophy: A Short Review Article

Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...

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spinal muscular atrophy: a short review article

spinal muscular atrophy (sma) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. the survival motor neuron (smn) protein level reduces in patients with sma. two different genes code survival motor neuron protein in human genome. skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...

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Spinal muscular atrophy: a timely review.

Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of motor neurons in the anterior horn of the spinal cord and resultant weakness. The most common form of SMA, accounting for 95% of cases, is autosomal recessive proximal SMA associated with mutations in the survival of motor neurons (SMN1) gene. Relentless progress during the past 15 years in the understanding o...

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Spinal Muscular Atrophy Panel

Test code: NE1801 The Blueprint Genetics Spinal Muscular Atrophy Panel is a 27 gene test for genetic diagnostics of patients with clinical suspicion of distal hereditary motor neuropathy or spinal muscular atrophy. Spinal muscular atrophies (SMAs) are inherited in an autosomal dominant, autosomal recessive or X-linked manner. In addition to deletion or gene conversion of SMN1 and copy number va...

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ژورنال

عنوان ژورنال: Molecular Medicine Reports

سال: 2008

ISSN: 1791-2997,1791-3004

DOI: 10.3892/mmr.1.2.161